Incidental Mutation 'IGL01686:Cmpk2'
| ID |
103967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cmpk2
|
| Ensembl Gene |
ENSMUSG00000020638 |
| Gene Name |
cytidine/uridine monophosphate kinase 2 |
| Synonyms |
TDKI, Tyki, 1200004E04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01686
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
26519203-26529836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 26527177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 389
(R389W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020969]
|
| AlphaFold |
Q3U5Q7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020969
AA Change: R389W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020969
Gene: ENSMUSG00000020638
AA Change: R389W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
97 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
198 |
208 |
N/A |
INTRINSIC |
|
Pfam:Thymidylate_kin
|
257 |
438 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221826
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,548,801 (GRCm39) |
V1316A |
possibly damaging |
Het |
| Ada |
T |
G |
2: 163,572,236 (GRCm39) |
K254N |
probably benign |
Het |
| Adamts17 |
A |
G |
7: 66,490,037 (GRCm39) |
R40G |
probably benign |
Het |
| Akr1d1 |
C |
T |
6: 37,507,178 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,536,215 (GRCm39) |
|
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,095,831 (GRCm39) |
I378F |
probably benign |
Het |
| BC028528 |
T |
C |
3: 95,796,212 (GRCm39) |
N50S |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,641,294 (GRCm39) |
S783T |
possibly damaging |
Het |
| Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
C |
17: 78,651,863 (GRCm39) |
L529P |
probably benign |
Het |
| Ctps1 |
A |
G |
4: 120,411,183 (GRCm39) |
S278P |
probably benign |
Het |
| Defb21 |
C |
A |
2: 152,416,821 (GRCm39) |
|
probably benign |
Het |
| Ecm1 |
T |
A |
3: 95,643,376 (GRCm39) |
N308I |
probably benign |
Het |
| Flg2 |
T |
C |
3: 93,109,591 (GRCm39) |
S540P |
unknown |
Het |
| Gabrp |
G |
T |
11: 33,502,826 (GRCm39) |
S346* |
probably null |
Het |
| Gli2 |
C |
A |
1: 118,776,165 (GRCm39) |
C419F |
probably damaging |
Het |
| Grid2 |
T |
A |
6: 64,297,180 (GRCm39) |
F514L |
probably benign |
Het |
| Hormad1 |
T |
G |
3: 95,485,580 (GRCm39) |
M256R |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,686,693 (GRCm39) |
|
probably benign |
Het |
| Klhl38 |
A |
T |
15: 58,186,707 (GRCm39) |
D7E |
probably benign |
Het |
| Map3k1 |
G |
A |
13: 111,891,196 (GRCm39) |
T1248I |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,309,542 (GRCm39) |
V303E |
probably benign |
Het |
| Mterf4 |
A |
T |
1: 93,232,443 (GRCm39) |
L136* |
probably null |
Het |
| Mtmr14 |
A |
G |
6: 113,217,391 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nf2 |
A |
T |
11: 4,768,613 (GRCm39) |
D85E |
probably benign |
Het |
| Nmnat2 |
G |
T |
1: 152,952,743 (GRCm39) |
|
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,916,497 (GRCm39) |
D476E |
probably benign |
Het |
| Or14c45 |
T |
C |
7: 86,175,986 (GRCm39) |
V7A |
probably benign |
Het |
| Or8b53 |
T |
A |
9: 38,667,550 (GRCm39) |
C189S |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,333,958 (GRCm39) |
|
probably benign |
Het |
| Prrg1 |
G |
A |
X: 77,527,388 (GRCm39) |
A47V |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,981 (GRCm39) |
I160K |
probably benign |
Het |
| Sardh |
T |
C |
2: 27,079,625 (GRCm39) |
Y889C |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,956,110 (GRCm39) |
D605E |
probably benign |
Het |
|
| Other mutations in Cmpk2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03306:Cmpk2
|
APN |
12 |
26,521,442 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0090:Cmpk2
|
UTSW |
12 |
26,528,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0245:Cmpk2
|
UTSW |
12 |
26,519,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0369:Cmpk2
|
UTSW |
12 |
26,527,150 (GRCm39) |
nonsense |
probably null |
|
|
R0610:Cmpk2
|
UTSW |
12 |
26,528,055 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1370:Cmpk2
|
UTSW |
12 |
26,521,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1897:Cmpk2
|
UTSW |
12 |
26,524,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Cmpk2
|
UTSW |
12 |
26,527,046 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4210:Cmpk2
|
UTSW |
12 |
26,519,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4544:Cmpk2
|
UTSW |
12 |
26,528,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5689:Cmpk2
|
UTSW |
12 |
26,519,766 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6378:Cmpk2
|
UTSW |
12 |
26,519,415 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6383:Cmpk2
|
UTSW |
12 |
26,528,019 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6597:Cmpk2
|
UTSW |
12 |
26,524,144 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6978:Cmpk2
|
UTSW |
12 |
26,527,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7332:Cmpk2
|
UTSW |
12 |
26,528,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8316:Cmpk2
|
UTSW |
12 |
26,524,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Cmpk2
|
UTSW |
12 |
26,527,204 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9176:Cmpk2
|
UTSW |
12 |
26,524,027 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9275:Cmpk2
|
UTSW |
12 |
26,519,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9278:Cmpk2
|
UTSW |
12 |
26,519,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9459:Cmpk2
|
UTSW |
12 |
26,528,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9506:Cmpk2
|
UTSW |
12 |
26,519,850 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2014-01-21 |
Incidental Mutation